Diko : en:congenital myopathy (in one patient)

en:congenital myopathy (in one patient)

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Langue:anglais

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source:wiki

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umls:C4229492

Associations d'idées

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50+

myopathie

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en:congenital

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patient ▷

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en:abnormal mitochondria with loss of cristae

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en:abnormal iron deposition in mitochondria

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en:abnormal mitochondria

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en:abnormal muscle fibers with amorphous, granular, or hyaline deposits

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en:abnormal aggregation of mitochondria

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en:abnormal fiber size variation

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en:increased central nucleation

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en:muscle atrophy, mild, more proximal than distal

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en:muscles become hard and tender during exercise

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en:muscle atrophy later in the disease

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en:muscle atrophy (variable)

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en:onset of weakness in hands and feet

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en:muscle weakness, upper and lower limbs

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en:calf pseudohypertrophy rare

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en:myopathy, nonprogressive

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en:no dystrophic changes

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en:muscle biopsy shows increased variation in fiber size

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en:hypoplasia of supraspinatus muscle

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en:muscle biopsy may show inflammatory changes

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en:increased muscle lipid content

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en:muscle biopsy shows rimmed vacuoles

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en:fiber size variation seen on muscle biopsy

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en:muscle atrophy appears later in disease course

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en:absence of telethonin protein

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en:muscle biopsy shows degenerating endplates and junctional folds

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en:limb muscle weakness, proximal, upper and lower

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en:electromyographic decrements in some muscles

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en:muscle mounding

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en:pain or cramping during sustained manual activity

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en:pseudoathletic appearance with prominent muscles before disease onset

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en:muscle cramps, painful, recurrent

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en:glycogenosis of skeletal muscle, mild (in some patients)

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en:hypotonia (2 patients)

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en:normal or increased facial and neck adipose tissue

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en:enlarged mitochondria

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en:loss of truncal subcutaneous adipose tissue

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en:myopathy (rare)

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en:muscle biopsy shows core-like regions devoid of oxidative activity

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en:red-ragged fibers (2p21del)

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en:other mitochondrial complex enzyme activities may also be decreased

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en:progression to wheelchair in fourth decade

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en:progressive distal muscle weakness

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en:poor exercise tolerance

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en:potassium sensitivity has been reported

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en:nemaline bodies are rarely intranuclear

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en:myofibrillar disintegration

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en:muscle pain with exercise (in older patients)

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50+

en:decreased atp production

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en:hand and foot weakness

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en:muscle cramps affect the upper and lower limbs

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en:loss of subcutaneous adipose tissue in limbs

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en:inability to jump or squat

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en:normal neonatal period may occur before weakness is apparent

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en:neck and proximal limb muscle myopathy

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en:lafora bodies (accumulation of polyglucosan) seen on skeletal muscle biopsy

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en:type 1 fibers are at least 12% smaller than type 2 fibers

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hypoplasie glutéale

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en:z-line streaming see on electron microscopy

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en:proximal muscle weakness (occasional)

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en:decreased muscle mitochondrial aconitase

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en:distal muscle weakness, affecting the lower limbs

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en:decreased distal reflexes

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en:autophagic vacuoles with multilamellar structures seen on electron microscopy

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en:accumulation of intrasarcoplasmic granulofilamentous aggregates that are immunoreactive to desmin and alpha-beta-crystallin

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en:lipohypoplasia, regional

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en:changes in sarcoplasmic reticulum and t-tubules

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en:progressive interictal weakness is common

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en:positive staining for slow myosin heavy chain

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en:loss of gluteal adipose tissue

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en:muscle biopsy shows lipid deposition

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en:difficulty rising from a squatting position

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en:mallory-like bodies

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en:muscle biopsy shows dystrophic changes

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en:weakness of ankle and toe extensor (dorsiflexor) muscles

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en:rimmed vacuoles with basophilic granular material

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en:progression to wheelchair in fourth decade

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en:muscle weakness, predominantly proximal

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en:absence of immunostaining for alpha- and beta-dystroglycan (family b)

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en:generalized muscular appearance from birth

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en:biopsy shows defects in pyruvate oxidation

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en:calf atrophy (later onset)

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en:patchy muscle fiber degeneration

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en:myotonia (usually occurs during rapid voluntary muscle movements after a period of rest)

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en:retain some mechanical adipose tissue (joints, orbits, palms, soles)

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en:calf muscle hypertrophy

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en:facial muscle weakness and atrophy, progressive

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en:marked lack of adipose tissue

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en:muscle biopsy shows centralized nuclei

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en:leg cramps may occur with exercise

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en:fiber necrosis

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en:absence of spontaneous activity at birth (severe form)

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en:nemaline bodies are usually subsarcolemmal or sarcoplasmic

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en:weakness and wasting of the lower limbs

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en:vacuolar myopathy may occur

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en:progressive distal and proximal symmetric limb weakness

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en:nonspecific myopathy

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en:asymmetric muscle involvement

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Génériques

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en:congenital

• Mathieu Lafourcade • LIRMM (données libres en Creative Commons) •

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=9094181 • caches: c1=60 c2=406 c3=872

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